Incidental Mutation 'R0076:Sec1'
| ID |
212554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec1
|
| Ensembl Gene |
ENSMUSG00000040364 |
| Gene Name |
secretory blood group 1 |
| Synonyms |
GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase FUT-III, Fut3 |
| MMRRC Submission |
038363-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0076 (G1)
|
| Quality Score |
26 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45327110-45343825 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45328315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 244
(V244A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040636]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040636
AA Change: V244A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045229
Gene: ENSMUSG00000040364
AA Change: V244A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_11
|
55 |
362 |
1.6e-146 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: This gene is one of three genes in mouse which encode a galactoside 2-L-fucosyltransferase. These genes differ in their developmental- and tissue-specific expression. This gene is predicted to encode a type II membrane protein, which is anchored in the Golgi apparatus and controls the final step in the creation of alpha (1,2) fucosylated carbhohydrates by the addition of a terminal fucose in an alpha (1,2) linkage. The biological function of the fucosylated carbhohydrate products is thought to involve cell-adhesion and interactions with microorganisms. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
G |
9: 104,201,417 (GRCm39) |
|
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,392,265 (GRCm39) |
K1693* |
probably null |
Het |
| Car10 |
G |
A |
11: 93,381,423 (GRCm39) |
E129K |
possibly damaging |
Het |
| Ccnd1 |
A |
C |
7: 144,493,402 (GRCm39) |
V10G |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,010,034 (GRCm39) |
D406G |
probably damaging |
Het |
| Cfap91 |
G |
A |
16: 38,123,046 (GRCm39) |
Q661* |
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,268,713 (GRCm39) |
P1009L |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,276,578 (GRCm39) |
|
probably null |
Het |
| Crlf3 |
A |
T |
11: 79,947,427 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,788,685 (GRCm39) |
|
probably benign |
Het |
| Dus1l |
A |
T |
11: 120,683,634 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
G |
A |
11: 69,898,926 (GRCm39) |
E438K |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,809,049 (GRCm39) |
F85S |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,204,224 (GRCm39) |
M456V |
probably benign |
Het |
| Fbxo47 |
G |
A |
11: 97,748,481 (GRCm39) |
|
probably benign |
Het |
| Galntl5 |
A |
G |
5: 25,391,070 (GRCm39) |
|
probably null |
Het |
| Gm11437 |
T |
C |
11: 84,039,462 (GRCm39) |
T288A |
possibly damaging |
Het |
| Gm5546 |
T |
A |
3: 104,260,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfb |
C |
A |
14: 47,054,912 (GRCm39) |
A11S |
probably benign |
Het |
| Hnrnpa3 |
G |
T |
2: 75,492,040 (GRCm39) |
R52L |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,170 (GRCm39) |
M48T |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,741,356 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,053,383 (GRCm39) |
|
probably null |
Het |
| Pex3 |
A |
G |
10: 13,411,338 (GRCm39) |
V180A |
probably benign |
Het |
| Pou6f1 |
G |
A |
15: 100,485,717 (GRCm39) |
Q106* |
probably null |
Het |
| Ror2 |
T |
C |
13: 53,267,110 (GRCm39) |
M442V |
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Serac1 |
A |
G |
17: 6,115,212 (GRCm39) |
|
probably benign |
Het |
| Sgcz |
A |
G |
8: 38,012,596 (GRCm39) |
|
probably benign |
Het |
| Slc16a7 |
A |
T |
10: 125,063,939 (GRCm39) |
V466D |
probably benign |
Het |
| Tbl1xr1 |
T |
A |
3: 22,243,949 (GRCm39) |
D74E |
probably benign |
Het |
| Ube3b |
G |
T |
5: 114,546,278 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,080 (GRCm39) |
S184P |
probably benign |
Het |
|
| Other mutations in Sec1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0034:Sec1
|
UTSW |
7 |
45,328,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0076:Sec1
|
UTSW |
7 |
45,328,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Sec1
|
UTSW |
7 |
45,328,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1780:Sec1
|
UTSW |
7 |
45,328,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3498:Sec1
|
UTSW |
7 |
45,328,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4634:Sec1
|
UTSW |
7 |
45,328,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Sec1
|
UTSW |
7 |
45,328,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Sec1
|
UTSW |
7 |
45,328,264 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7371:Sec1
|
UTSW |
7 |
45,328,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7417:Sec1
|
UTSW |
7 |
45,334,149 (GRCm39) |
splice site |
probably null |
|
|
R8868:Sec1
|
UTSW |
7 |
45,328,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Sec1
|
UTSW |
7 |
45,328,897 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9081:Sec1
|
UTSW |
7 |
45,333,987 (GRCm39) |
intron |
probably benign |
|
|
R9199:Sec1
|
UTSW |
7 |
45,328,009 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9485:Sec1
|
UTSW |
7 |
45,328,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9591:Sec1
|
UTSW |
7 |
45,328,102 (GRCm39) |
missense |
|
|
|
R9647:Sec1
|
UTSW |
7 |
45,328,556 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGCCAGCAAATGCCACGTCC -3'
(R):5'- GTTGCATAGCGACACAGCCAAAAG -3'
Sequencing Primer
(F):5'- AATGCCACGTCCCCTCG -3'
(R):5'- GATCCCGTGGCAGAATTACC -3'
|
| Posted On |
2014-07-09 |
Incidental Mutation